Variant: rs121964994

present in Gene: INVS present in Chromosome: 9 Position on Chromosome: 100284342 Alleles of this Variant: C/T

rs121964994 in INVS gene and Nephronophthisis PMID 12872123 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.